Gene/phenotype/disorder under study
OGT (OMIM * 300255) – O-GlcNAc Transferase Congenital Disorder of Glycosylation (OGT-CDG or OGT X-Linked Intellectual Disability, OGT-XLID
Abstract
O-GlcNAc Transferase Congenital Disorder of Glycosylation (OGT-CDG) is a recently described, rare X-linked neurodevelopmental disorder caused by missense variants in OGT, a key regulator of O-GlcNAcylation. Affected individuals present with intellectual disability, developmental delay, dysmorphic features, and variable neurological and systemic manifestations. However, due to the small number of reported cases, the full clinical spectrum, disease progression, and molecular pathophysiology remain poorly understood.
We are conducting an international natural history and biomarker study with the aims of (1) delineating the phenotypic spectrum, (2) identifying molecular biomarkers relevant to disease state and progression, and (3) exploring genotype–phenotype correlations. These clinical and molecular analyses will be complemented, where relevant, by the use of established experimental tools available in our laboratory, including pathogenicity screening of unique OGT variants (not requiring patient material) and disease-relevant mouse, Drosophila, and mouse embryonic stem cell models.
We invite clinicians to contribute cases of confirmed or suspected OGT-CDG to establish a consistent international cohort for collaborative analysis and future dissemination through ERN-ITHACA–supported publication(s).
Coordinating clinician
Daan van Aalten – ogtcdg@au.dk
Institution
Department of Molecular Biology and Genetics, Aarhus University, Denmark
Specific requirements beyond clinical data and genotype data sharing:
1- Re-analysis of DNA samples: No
2- Resampling of patients: Yes
3- Linked to a translational/basic research project: Yes